Presentation
The spectrum of clinical presentation of fatty acid oxidation defects (FAOD) continues to expand. [ncbi.nlm.nih.gov]
Entire Body System
-
Fatigue
Both patients clinically presented the same features (fatiguable limb weakness, no clinical or laboratory evidence of central nervous system, cardiac or retinal involvement) and were biochemically diagnosed as Complex 1 deficiency (50% activity). [moh-it.pure.elsevier.com]
Although there is no cure for CPT1A deficiency, symptoms can be managed using several strategies, such dietary changes and use of fat supplements. 0000708 Elevated hepatic transaminase High liver enzymes 0002910 Fatigue Tired Tiredness [2] Avoidance prolonged [rarediseases.info.nih.gov]
Gastrointestinal
-
Eating Frequently
Prevention of primary manifestations: To prevent hypoglycemia, infants should eat frequently during the day and have cornstarch continuously at night; fasting should not last more than 12 hours during illness, surgery, or medical procedures; adults need [ncbi.nlm.nih.gov]
Psychiatrical
-
Suggestibility
Furthermore, in patient's fibroblasts the CPT IA protein was markedly reduced on immunoblot, suggesting that the mutation renders the protein unstable. [ncbi.nlm.nih.gov]
With biochemical tests we confirm the suggestion that CPT deficiency could be caused by a mutant enzyme with different affinity for substrate concentration. [moh-it.pure.elsevier.com]
This result might suggest that both characteristics are indeed associated, although we were not able to confirm their significance (Table 1). [scielo.br]
Neurologic
-
Spastic Paraplegia
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. JAMA Neurol. 2015; 72 :561–70. [ PMC free article : PMC5612424 ] [ PubMed : 25751282 ] Sim KG, Wiley V, Carpenter K, Wilcken B. [ncbi.nlm.nih.gov]
Workup
Biopsy
-
Liver Biopsy
A liver biopsy revealed massive macrovesicular steatosis. Ketogenesis was absent after a long-chain triglyceride loading test; in contrast, the medium-chain triglyceride loading test resulted in a brisk rise in plasma ketone concentration. [ncbi.nlm.nih.gov]
Treatment
The hyperlipidaemia resolved within 3 days of treatment and did not recur. At 2 years of age, the patient's liver function, growth and development are all normal. [ncbi.nlm.nih.gov]
At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you. Know why a new medicine or treatment is prescribed, and how it will help you. [cedars-sinai.org]
Management and treatment Treatment consists primarily of avoidance of fasting. [orpha.net]
Prognosis
Prognosis With treatment, prognosis is good and neurological damage resulting from recurrent hypoglycemia may be prevented. The documents contained in this web site are presented for information purposes only. [orpha.net]
Etiology
In the neonatal period hypoglycemia with cardio-respiratory distress of unknown etiology was observed while psychomotor development was normal in both neonatal and early childhood periods. [amjcaserep.com]
Etiology CPT-1A deficiency is due to mutations in the CPT1A gene that codes for the liver isoform of the CPT1 enzyme located within the external mitochondrial membrane and whose function is to conjugate LCFAs to carnitine. [orpha.net]
Posttraumatic, ischemic, toxic, infectious, endocrine and immunological etiologies were ruled out. A muscle biopsy from the deltoid muscle was performed. The immunohistochemistry revealed type 2 carnitine-palmitoyl transferase (CPT) deficiency. [revistanefrologia.com]
Epidemiology
Summary Epidemiology Since the description of the disease in 1981, less than 50 cases have been reported. [orpha.net]
Pathophysiology
Among other candidates, energy deficiency and changes in metabolism were proposed, considering they might have a potential role in the complex pathophysiological mechanisms underlying neurological deterioration in HD2. [scielo.br]
Prevention
Carnitine palmitoyltransferase I deficiency Other names CPT-I, CPT1 Carnitine Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly [en.wikipedia.org]
Prevention of secondary complications: Prevention of hypoglycemia reduces the risk for related neurologic damage. [ncbi.nlm.nih.gov]
This can prevent low blood sugar. It can also prevent the body using fats for energy. And you should stay away from things that may trigger symptoms. These may include skipping meals, exposure to cold, stress, and a lot of exercise. [cedars-sinai.org]
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals. [ghr.nlm.nih.gov]